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ORPHA:909

Cerebrotendinous xanthomatosis

low confidenceDisorder

Also known as: CTX · Sterol 27-hydroxylase deficiency

Publications

7,280

Trials

4

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

CYP27A1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

CTx · cerebrotendinous xanthomatosis · cholestanol storage disease · sterol 27-hydroxylase deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CYP27A1

  2. LiteraturePresent

    7,280 matched papers (4,943 in last 10 years) Source

  3. Phenotype characterisedPresent

    128 HPO annotations (e.g. Intellectual disability; Spasticity; Dysarthria) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    3 FDA designations (3 FDA orphan-indication approvals) — e.g. chenodiol Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (CYP27A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

128

Associated phenotypes · MONDO:0008948

  • Intellectual disability
  • Spasticity
  • Dysarthria
  • Hyperreflexia
  • Pes cavus

Showing 5 of 128 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · 3 with FDA orphan-indication approval

  • FDA chenodiolCEREBROTENDINOUS XANTHOMATOSIS · 2010-03-22 · Not FDA Approved for Orphan Indication
  • FDA chenodeoxycholic acidCEREBROTENDINOUS XANTHOMATOSIS · 2007-02-12 · Not FDA Approved for Orphan Indication
  • FDA Chenodeoxycholic acidCEREBROTENDINOUS XANTHOMATOSIS · 2004-01-29 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0008948

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,280

7,280 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,280 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,943 in the last 10 years · low confidence

Phrase hits: 1,794 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,122

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kemper EM8 papers · 2026

    Department of Experimental Vascular Medicine, Amsterdam UMC, Amsterdam, Netherlands.

    Papers in Europe PMC
  2. 02
    Nóbrega PR8 papers · 2026

    Division of Neurology, Department of Clinical Medicine, Federal University of Ceara, Fortaleza 60430-372, Brazil.

    Papers in Europe PMC
  3. 03
    Braga-Neto P7 papers · 2026

    Division of Neurology, Walter Cantidio University Hospital, Federal University of Ceara, Fortaleza 60430-372, CE, Brazil.

    Papers in Europe PMC
  4. 04
    Vaz FM7 papers · 2026

    Amsterdam UMC Location University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: f.m.vaz@amsterdamumc.nl.

    Papers in Europe PMC
  5. 05
    Bonnen PE6 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  6. 06
    Dutta R6 papers · 2026

    Mirum Pharmaceuticals, Inc., Foster City, California.

    Papers in Europe PMC
  7. 07
    Garg D6 papers · 2026

    Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC
  8. 08
    Hanson J6 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  9. 09
    Lima PLGSB6 papers · 2026

    Faculty of Medicine, Federal University of Ceara, Fortaleza 60430-372, Brazil.

    Papers in Europe PMC
  10. 10
    Agarwal A5 papers · 2026

    Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: xanthomatosis

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Cerebrotendinous xanthomatosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Cerebrotendinous xanthomatosis" OR "Sterol 27-hydroxylase deficiency" OR "cholestanol storage disease") OR ("CYP27A1" OR "CYP27A1 syndrome" OR "CYP27A1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Cerebrotendinous xanthomatosis" OR "Sterol 27-hydroxylase deficiency" OR "cholestanol storage disease"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"xanthomatosis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CTX

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7280) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:52:53.115Z